Abstract:
:Reciprocal translocations were studied in two groups of balanced carrier couples: 202 had 210 translocation aneuploid between (LB) infants, and 95 couples had repetitive abortions (AB) without liveborn aneuploids. The observed translocation aneuploidies in the LB group were compared to predicted potential aneuploidies in AB by frequency of chromosome involvement, meiotic segregation mode, and mean trisomic, monosomic and combined genomic imbalances. Qualitative and quantitative differences identified genomic regions and chromosomes possibly vital for in utero survivability. LB aneuploidies indicate non-random chromosome involvement, selection of least detrimental segregants and segments, and predominant transmission from maternal balanced carriers (especially in 3:1 tertiary segregation, 93.5%). For an individual with a balanced reciprocal translocation and untested reproductive capability, an approach is given for predicting whether a translocation aneuploid conceptus will be liveborn or aborted.
journal_name
Clin Genetjournal_title
Clinical geneticsauthors
Davis JR,Rogers BB,Hagaman RM,Thies CA,Veomett ICdoi
10.1111/j.1399-0004.1985.tb00179.xsubject
Has Abstractpub_date
1985-01-01 00:00:00pages
1-19issue
1eissn
0009-9163issn
1399-0004journal_volume
27pub_type
杂志文章,评审abstract::A de novo supernumerary small marker chromosome 15 was observed in a female infant with mental and statomotoric retardation as well as minor facial dysmorphia. The marker chromosome was analyzed by ten different staining techniques and 5-azacytidine treatment of lymphocyte cultures. It is shown that the supernumerary ...
journal_title:Clinical genetics
pub_type: 杂志文章
doi:10.1111/j.1399-0004.1986.tb00570.x
更新日期:1986-07-01 00:00:00
abstract::We report on an 18-month-old girl who has both the cri du chat and Marfan syndromes. She was born at term to a 29-year-old woman with the clinical diagnosis of Marfan syndrome. An evaluation for developmental delay at 2 months of age showed a karyotype of 46,XX,del(5)(15.1), consistent with cri du chat syndrome. At ag...
journal_title:Clinical genetics
pub_type: 杂志文章
doi:10.1111/j.1399-0004.1994.tb04169.x
更新日期:1994-10-01 00:00:00
abstract::We identified the homozygous p.Arg12* variant in 5 patients with neurodevelopmental delay, but variation databases list many truncating heterozygous variants for this small 2-exon gene. As most of these affect the protein's C-terminus, loss-of-function mediated pathogenicity may be confined to bi-allelic truncating va...
journal_title:Clinical genetics
pub_type: 信件
doi:10.1111/cge.13386
更新日期:2018-10-01 00:00:00
abstract::Marfan syndrome (MFS) is an autosomal dominant disorder of the fibrous connective tissue caused by mutations in the fibrillin-1 (FBN1) gene. Although clinical and genetic analyses have been performed in various populations, there have been few studies in Korea. The aim of this study was to investigate the clinical cha...
journal_title:Clinical genetics
pub_type: 杂志文章
doi:10.1111/j.1399-0004.2009.01287.x
更新日期:2010-02-01 00:00:00
abstract::In 100 children with Down syndrome (DS), the parental origin of the supernumery chromosome 21 was investigated. In 76 out of the 100 cases the polymorphic regions were informative, i.e. the nondisjunction could be traced. Assessment of the alpha 1-antitrypsin/alpha 1-protease inhibitor (PI) types in these DS children ...
journal_title:Clinical genetics
pub_type: 杂志文章
doi:10.1111/j.1399-0004.1981.tb01037.x
更新日期:1981-10-01 00:00:00
abstract::Isolated cleft palate (CP) is considered to be a heterogeneous trait with an important genetic contribution to the etiology. Multifactorial-threshold models of non-syndromic CP inheritance assume a female predominance. The present study of 52 Danish birth cohorts, using several ascertainment sources, identified 2301 C...
journal_title:Clinical genetics
pub_type: 杂志文章
doi:10.1111/j.1399-0004.1994.tb04173.x
更新日期:1994-11-01 00:00:00
abstract::Muscular dystrophy (MD) is a genetically and clinically heterogeneous group of disorders. Here, we performed targeted sequencing of 18 limb-girdle MD (LGMD)-related genes in 35 patients who were highly suspected of having MD. We identified one or more pathogenic variants in 23 of 35 patients (65.7%), and a genetic dia...
journal_title:Clinical genetics
pub_type: 杂志文章
doi:10.1111/cge.12621
更新日期:2016-04-01 00:00:00
abstract::In 1984, we interviewed 105 Belgian families with a Cystic Fibrosis (CF) child in order to assess the impact of the birth of their CF-child on subsequent family planning and to evaluate their attitudes towards prenatal diagnosis. Three years later, in 1987, they received a mailed questionnaire for an updating of the r...
journal_title:Clinical genetics
pub_type: 杂志文章
doi:10.1111/j.1399-0004.1990.tb03504.x
更新日期:1990-03-01 00:00:00
abstract::Chromosome analysis of G-banded cells from 92 individuals consecutively referred to the Cytogenetics Laboratory show that the paracentromeric band in the short arm (6p11), which stains negatively with G-banding and darkly with C-banding, shows a marked increase in size in about 9% of chromosome no. 6. The results of t...
journal_title:Clinical genetics
pub_type: 杂志文章
doi:10.1111/j.1399-0004.1979.tb01761.x
更新日期:1979-02-01 00:00:00
abstract::Plasma from 158 presumed healthy nuclear families has been analyzed by high-resolution, two-dimensional electrophoresis to study the frequency and effects of the genetic polymorphism in human apolipoprotein A-IV. Two common alleles, apo A-IV 1 and apo A-IV 2 were detected with relative frequencies of 0.943 and 0.057, ...
journal_title:Clinical genetics
pub_type: 杂志文章
doi:10.1111/j.1399-0004.1990.tb03527.x
更新日期:1990-06-01 00:00:00
abstract::In this paper we report a 22-year-old male with an asymmetric skeletal dysplasia, affecting almost the whole right part of the body and closely resembling pseudoachondroplastic dysplasia. This "segmental" type of chondrodysplasia is apparently another rare example of a somatic mutation of an autosomal dominant gene in...
journal_title:Clinical genetics
pub_type: 杂志文章
doi:
更新日期:1986-10-01 00:00:00
abstract::We report a 16-year-old boy, born to consanguineous parents, with mental retardation, gait disturbances and dysarthria; brain magnetic resonance showed features consistent with rhombencephalosynapsis. This condition is characterised by a hypoplastic single-lobed cerebellum. The interest of this case is the presence of...
journal_title:Clinical genetics
pub_type: 杂志文章
doi:10.1111/j.1399-0004.1997.tb02542.x
更新日期:1997-09-01 00:00:00
abstract::Female heterozygotes for the fragile X syndrome show variable levels of mental handicap from normal to severely retarded. The degree to which they are affected may depend upon whether the fragile or the normal X chromosome is preferentially inactivated, but one of the problems with the use of BUdR for the study of Lyo...
journal_title:Clinical genetics
pub_type: 杂志文章
doi:10.1111/j.1399-0004.1989.tb03362.x
更新日期:1989-07-01 00:00:00
abstract::To create a diagnostic document describing the utilization of pre-implantation genetic testing (PGT) in the absence of monitoring and regulation. Retrospective cohort study of couples undergoing PGT between 2004 and 2007 in Lebanon. The clinical indications for 192 PGT cycles performed during the study period were gen...
journal_title:Clinical genetics
pub_type: 杂志文章
doi:10.1111/cge.12250
更新日期:2014-08-01 00:00:00
abstract::The potential causes for the incomplete penetrance of Pelizaeus-Merzbacher disease (PMD) in female carriers of PLP1 mutations are not well understood. We present a family with a boy having PMD in association with PLP1 duplication and three females who are apparent manifesting carriers. Custom high-resolution oligonucl...
journal_title:Clinical genetics
pub_type: 杂志文章
doi:10.1111/j.1399-0004.2011.01716.x
更新日期:2012-06-01 00:00:00
abstract::Germline mutations of the STK11 gene mapped to chromosome 19p13.3 are responsible for Peutz Jeghers syndrome (PJS), a dominant disorder associated with characteristic gastrointestinal hamartomatous polyps and a predisposition to various cancers. We conducted a detailed investigation of germline STK11 alterations by pr...
journal_title:Clinical genetics
pub_type: 杂志文章
doi:10.1034/j.1399-0004.1999.560207.x
更新日期:1999-08-01 00:00:00
abstract::Mutations in the genes FBN1, TGFBR1, and TGFBR2 can result in heritable connective tissue disorders comprising the Marfan syndrome and the Loeys-Dietz syndrome. Dural ectasia is a characteristic manifestation of both syndromes. However, dural ectasia has not yet been investigated in connective tissue disorders that ar...
journal_title:Clinical genetics
pub_type: 杂志文章
doi:10.1111/j.1399-0004.2010.01494.x
更新日期:2011-06-01 00:00:00
abstract::Transient neonatal diabetes mellitus (TNDM) usually develops within the first few weeks of life and resolves at a median age of 3 months. In most of the cases, TNDM is caused by the over-expression of a paternally expressed imprinted PLAGL1 locus on chromosome 6q24. The most frequent manifestation other than TNDM is i...
journal_title:Clinical genetics
pub_type: 杂志文章
doi:10.1111/j.1399-0004.2010.01433.x
更新日期:2010-12-01 00:00:00
abstract::It has been suggested that the form of X-linked mental retardation with macro-orchidism and the form associated with a marker X chromosome (fragile site at Xq27 or 28) are the same entity. Although our data support this hypothesis, one family from the literature does not. Data are presented suggesting that actual meas...
journal_title:Clinical genetics
pub_type: 杂志文章
doi:10.1111/j.1399-0004.1980.tb00120.x
更新日期:1980-02-01 00:00:00
abstract::A de novo interstitial duplication of the 6q11-q15 chromosome region, confirmed by the application of a chromosome 6 painting probe, was observed in a patient with craniofacial dysmorphism, psychomotor retardation, cryptorchidism and hypospadias. Despite the publication of several cases showing partial trisomy 6q, to ...
journal_title:Clinical genetics
pub_type: 杂志文章
doi:10.1111/j.1399-0004.1994.tb04183.x
更新日期:1994-11-01 00:00:00
abstract::Partial duplications of the long arm of chromosome 3, dup(3q), are a rare but well-described condition, sharing features of Cornelia de Lange syndrome. Around two thirds of cases are derived from unbalanced translocations, whereas pure dup(3q) have rarely been reported. Here, we provide an extensive review of the lite...
journal_title:Clinical genetics
pub_type: 杂志文章,评审
doi:10.1111/cge.12848
更新日期:2017-05-01 00:00:00
abstract::Mutations in the RMRP gene that codes for an RNA subunit of the MRP RNAse complex are the cause of cartilage-hair hypoplasia (CHH; MIM 250250). We tested the hypothesis that recessive metaphyseal dysplasia without hypotrichosis (M1M 250460), a disorder presenting with short stature and metaphyseal dysplasia similar to...
journal_title:Clinical genetics
pub_type: 杂志文章
doi:10.1034/j.1399-0004.2002.610210.x
更新日期:2002-02-01 00:00:00
abstract:BACKGROUND:Mutations in the DNAJB6 gene have been identified as a rare cause of dominantly inherited limb-girdle muscular dystrophy or distal-onset myopathy. MATERIALS AND METHODS:Exome sequencing was performed to investigate a Taiwanese family with a dominantly inherited distal-onset myopathy. Functional effects of t...
journal_title:Clinical genetics
pub_type: 杂志文章
doi:10.1111/cge.13001
更新日期:2017-08-01 00:00:00
abstract::The Coffin-Lowry syndrome (CLS) is a rare X-linked semidominant syndrome characterized by severe psychomotor retardation, facial dysmorphism, digit abnormalities and progressive skeletal deformations. CLS is caused by mutations in a gene located in Xp22.2, RPS6KA3. This gene encodes for a growth factor-regulated serin...
journal_title:Clinical genetics
pub_type: 杂志文章
doi:10.1111/j.1399-0004.2006.00660.x
更新日期:2006-08-01 00:00:00
abstract::One hundred and eighty-one male and 48 female myocardial infarction (MI) survivors and 172 male and 194 female controls were studied with respect to a possible association between premature parental MI (before age 61 years in mothers and/or before age 56 years in fathers) and an insertion/deletion (I/D) polymorphism i...
journal_title:Clinical genetics
pub_type: 杂志文章
doi:10.1111/j.1399-0004.1993.tb03904.x
更新日期:1993-12-01 00:00:00
abstract::The mesomelic dysplasias are a heterogeneous group of genetic disorders with predominant skeletal manifestations in the forearms and shanks. We have documented, over a thirteen-year period, the clinical and radiographic course of the condition in a boy with the Langer type of mesomelic dysplasia. It has been suggested...
journal_title:Clinical genetics
pub_type: 杂志文章
doi:10.1111/j.1399-0004.1987.tb02762.x
更新日期:1987-01-01 00:00:00
abstract::X-linked mental retardation (MR) associated with a fragile X chromosome was found in two Swedish families. The fragile X chromosome was demonstrated in 5/5 boys with mental retardation. Clinical data on four of these boys are presented. In one of the families, the mental retardation was associated with macro-orchidism...
journal_title:Clinical genetics
pub_type: 杂志文章
doi:10.1111/j.1399-0004.1981.tb00678.x
更新日期:1981-02-01 00:00:00
abstract::This report concerns two patients with clinical features typical for tetrasomy 18p syndrome. Chromosomal analysis revealed a male karyotype in both cases, with an additional small metacentric marker chromosome, putatively an i(18p). Fluorescent in situ hybridization with a chromosome 18-specific paint confirmed that t...
journal_title:Clinical genetics
pub_type: 杂志文章,评审
doi:10.1111/j.1399-0004.1994.tb04035.x
更新日期:1994-06-01 00:00:00
abstract::In this report, we describe a male infant with a 45,X karyotype; the entire short arm and the centromere of the Y chromosome were translocated onto the short arm of chromosome 18, resulting in an unbalanced dicentric chromosome. Breakpoints were identified by in situ fluorescence hybridization (FISH) on the proximal Y...
journal_title:Clinical genetics
pub_type: 杂志文章
doi:10.1111/j.1399-0004.1996.tb04322.x
更新日期:1996-01-01 00:00:00
abstract::SLC25A42 gene encodes an inner mitochondrial membrane protein that imports Coenzyme A into the mitochondrial matrix. A mutation in this gene was recently reported in a subject born to consanguineous parents who presented with mitochondrial myopathy with muscle weakness and lactic acidosis. In this report, we present 1...
journal_title:Clinical genetics
pub_type: 杂志文章
doi:10.1111/cge.13210
更新日期:2018-05-01 00:00:00